Variant (rsID / SNP)

rs104895076

rs104895076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MEFV. Location: chromosome 16, position 3,304,625. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MEFVUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:3304625
Cytoband: 16p13.3
HGVS: NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
Allele change: Missense_E148V

Associated conditions / phenotypes

Familial Mediterranean fever|Autoinflammatory syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.